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Disease-Related Advice Needed

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This topic contains 22 replies, has 4 voices, and was last updated by avatar Sarah 1 month, 1 week ago.

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  • #696794 Reply
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    Sarah

    Even if the family tree is not super helpful, that is still done as a routine part of the genetic history obtained from the patient. At the very least, the genetic counselor will ask why my sister chose to get tested for that particular gene mutation. (That gene mutation was identified in my daughter’s and my genetic testing, when they basically looked at all of our genes. Once the gene mutation was identified, they were able to do very targeted testing on my sister, rather than the general testing done on my child and me.) I say all of this to show that the genetic counselor will know the difference between general vs more targeted testing, and will therefore be able to conclude that this was done for a very specific reason (typically that reason is an affected child).

    For several technical medical reasons, we don’t know if my daughter will live a “normal” life or not. She may live a somewhat normal life, or partially or fully disabled. She is very young right now. I’m not willing to put her in a box just yet. I plan to see how this plays out first before letting more people know about the specific diagnosis.

    #696808 Reply
    Skyblossom
    Skyblossom
    Participant

    A family tree would be done to search for patterns or indications that the trait runs in the family to try to determine the risk of the mother carrying the disease to determine the risk of her passing it on to her child. Since the mother has already been genetically tested they know exactly what her risk is for carrying the gene, she has it. They already know her risk for passing the gene on to her child. She has a 50% risk of passing the gene to each child she has. The only risk they don’t know is the father’s side of the family. If they test the father then they will know the exact risk to the child. Whether or not the LW and her child carry the disease is irrelevant to knowing the risks to the sister’s baby. They already know the sister has it and so don’t need the LWs information.

    The geneticist is still required to keep your information confidential so if you say you don’t want the BIL to be told then the geneticist can’t mention it. It is information that isn’t needed to determine the risk to your sister’s child from your side of the family. That risk is fully known and understood.

    #696824 Reply
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    Ron

    A couple of points. First, we have told LW why BIL should be tested in a way which clearly communicates the urgency to him of taking the test. What remains to be said, and I’m surprised we didn’t say this earlier, is that this is not something that LW should communicate to her BIL. This simply is not her lace. Her sister is the one who should have the discussion with her own husband. This has nothing to do with protecting the ‘health secret’ of LW’s daughter and everything to do with this involving sister’s/BIL’s nuclear family and being something they should discuss and decide for themselves. It is strange to me that LW wants to shield her daughter from BIL’s knowledge and possible sharing of her health condition, but wants to have this discussion with BIL in place of her sister.

    On the issue of family trees for gene-based disorders. For many diseases, this is old science, which has been surpassed by direct gene analysis. It dates from a time when this was the best we could do for any heritable condition. Perhaps the counselor still does it in all cases, because this is what the old procedure and training was. It is still the way for diseases with a hereditable component, which is not well understood — as in tied to a single gene. Breast cancer is an example. Despite the discovery of two gene abnormalities which greatly increase the risk of breast cancer, most women who develop breast cancer do not have either of these known gene abnormalities, so we know there is something else involved.

    My family has the gene for hemochromatosis, a disease which causes iron to accumulate in the major organs and blood. It also is a single-gene defect, recessive genetic disease. Fortunately, it often does not cause symptoms until late in life and is manageable if discovered before significant damage is done. I have a single copy of the bad gene, as do some of my cousins and my sibs.

    #696846 Reply
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    LisforLeslie

    If the issue is that your BIL will blab the issue to the entire community – I’m thinking you need to get some embarrassing dirt on him and make it clear that if he blabs – he triggers public humiliation. Get him drunk, take his picture doing something salacious. Maybe pants around his ankles, dildo sticking out of his butt cheeks. I don’t know – but if the only reason you don’t want to deal with this is that he could harm your sister’s standing in the community – be proactive.

    #696852 Reply
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    Sarah

    Sorry if I was unclear. I will not be having the discussion in place of my sister. She asked me to post as she has a lot going on right now. Also, rest assured, the appropriate testing is being pursued for BIL :).

    #696853 Reply
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    Sarah

    “Perhaps the counselor still does it in all cases, because this is what the old procedure and training was.”

    Exactly my point. It is part of a complete history obtained from a patient. I would actually be surprised if this wasn’t done in this case.

    #696887 Reply
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    Tui
    Member

    First of all, if the husband is being tested then ethically he needs to know that he is being tested to see if he carries a particular faulty gene. It’s not necessary to tell him which exactly and what it means, but be prepared that he may have questions. The karyotype test will usually look at all the chromosomes, as well as the targeted ones (at least where I work anyway). Usually if there is a risk of a genetic disorder, then pre-conceptual and genetic counselling and testing of the parents is preferable before the pregnancy, but that would certainly mean the husband would need to know why they were having it.
    If you are all from the same small ethnic community, it is more likely that he does carry even a rare gene mutation than if he is of a different ethnicity or group, as consanguinity in previous generations is more common, leading to higher rates of genetic conditions.

    It sounds like the biggest problem is that the husband is an emotionally abusive jerk. I understand that you want to protect yours and your daughters privacy, but if their child is affected too he may well ask your sister/you about other members of the family and may be upset that he’s been lied to by omission.
    I also want to acknowledge that if their child is affected and they go through with a TOP it may be harder on you as you have much loved child with the same thing who you presumably wouldn’t change for the world. Make sure you have support and an outlet if your sisters experiences are affecting you and hope things work out for everyone.

    #696913 Reply
    Skyblossom
    Skyblossom
    Participant

    @tui I assume that any genetic counselor would explain to the BIL what they were looking for and that his wife is a carrier. What he doesn’t need to know is that his SIL is a carrier and his niece has the disease. I do think that over time he, and his family, will figure out that the niece has this genetic disease. He may also wonder if the LW is getting tested since his wife is a carrier of this gene. He may assume it was discovered in his wife first. He may never realize it was the other way around. I don’t think that the LW will be able to keep this a secret over the long term. If her daughter isn’t hitting normal developmental milestones it will become obvious to everyone. If her daughter seems to be sick all the time it will become obvious to everyone.

    #696928 Reply
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    Ron

    Sarah —

    Your initial post started with the problem of what could be said to BIL to get him tested, without your daughter’s diagnosis coming up. Now you say that of course BIL is going through with testing. So is there a problem?

    For a known single-gene defect disease like the one you describe, you absolutely do not need to do a family tree or work through a genetic counselor. In the case of my family’s situation, our family doctor simply wrote a prescription for the testing for that particular gene. I just went for a blood draw and my physician gave me the test result. No fuss, no bother, no family tree. My father and sibs had the same experience. For my Dad, it was kicked off by very high ferritin levels, the first and second time he was tested for ferritin. I and sibs just told our doctors that our father had the actual genetic disease, with two bad copies of gene, and our doctor was happy to order the test, warning us that our insurance would not reimburse.

    #696932 Reply
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    Sarah

    No problem now. When I started the topic, he wasn’t yet being tested. He hadn’t been told anything. However, he has since been told his wife is a carrier without being told about my daughter’s condition. He has agreed to be tested, and the plan is in motion.

    ^You don’t need to work through a family tree, but most genetic drs will still do one, regardless, because that’s what they’ve been taught to do. I can’t speak for every single one though.

    She plans to see a genetic counselor if hubby is positive.

    #696933 Reply
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    Sarah

    And luckily, he hasn’t yet connected the dots with my child. He thinks it was just testing done as part of prenatal blood work. (We will cross that bridge when it comes.)

    Thanks for the advice, everyone!

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